| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.43733308_43733326del | CA2585556796 | SMG9 | c.1339+3_1339+21del c.607+3_607+21del | gnomAD v4 |
| 19 | g.43733314G>A | CA2337635195 | SMG9 | c.1339+10C>T (n.1339+10C>T) c.607+10C>T (n.607+10C>T) | dbSNP |
| 19 | g.43733314G= | CA2337635194 | SMG9 | c.1339+10C= (n.1339+10C=) c.607+10C= (n.607+10C=) | |
| 19 | g.43733314G>T | CA2585556798 | SMG9 | c.1339+10C>A (n.1339+10C>A) c.607+10C>A (n.607+10C>A) | gnomAD v4 |
| 19 | g.43733315_43733316insGTTA | CA2585556799 | SMG9 | c.1339+8_1339+9insTAAC (n.1339+8_1339+9insTAAC) c.607+8_607+9insTAAC (n.607+8_607+9insTAAC) | gnomAD v4 |
| 19 | g.43733319T>C | CA2585556800 | SMG9 | c.1339+5A>G (n.1339+5A>G) c.607+5A>G (n.607+5A>G) | gnomAD v4 |
| 19 | g.43733320G>A | CA2585556801 | SMG9 | c.1339+4C>T (n.1339+4C>T) c.607+4C>T (n.607+4C>T) | gnomAD v4 |
| 19 | g.43733320G>C | CA308802955 | SMG9 | c.1339+4C>G (n.1339+4C>G) c.607+4C>G (n.607+4C>G) | dbSNP |
| 19 | g.43733320G= | CA2337635196 | SMG9 | c.1339+4C= (n.1339+4C=) c.607+4C= (n.607+4C=) | |
| 19 | g.43733321T>C | CA633476711 | SMG9 | c.1339+3A>G (n.1339+3A>G) c.607+3A>G (n.607+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733321T= | CA2337635197 | SMG9 | c.1339+3A= (n.1339+3A=) c.607+3A= (n.607+3A=) | |
| 19 | g.43733322A>C | CA406206171 | SMG9 | c.1339+2T>G (n.1339+2T>G) c.607+2T>G (n.607+2T>G) | |
| 19 | g.43733322A>G | CA406206173 | SMG9 | c.1339+2T>C (n.1339+2T>C) c.607+2T>C (n.607+2T>C) | |
| 19 | g.43733322A>T | CA406206175 | SMG9 | c.1339+2T>A (n.1339+2T>A) c.607+2T>A (n.607+2T>A) | |
| 19 | g.43733323C>A | CA406206177 | SMG9 | c.1339+1G>T (n.1339+1G>T) c.607+1G>T (n.607+1G>T) | |
| 19 | g.43733323C= | CA2337635198 | SMG9 | c.1339+1G= (n.1339+1G=) c.607+1G= (n.607+1G=) | |
| 19 | g.43733323C>G | CA406206179 | SMG9 | c.1339+1G>C (n.1339+1G>C) c.607+1G>C (n.607+1G>C) | |
| 19 | g.43733323C>T | CA9491192 | SMG9 | c.1339+1G>A (n.1339+1G>A) c.607+1G>A (n.607+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733324C>A | CA406206180 | SMG9 | c.1339G>T (p.Gly447Ter) c.607G>T (p.Gly203Ter) | |
| 19 | g.43733324C= | CA2337635199 | SMG9 | c.1339G= (p.Gly447=) c.607G= (p.Gly203=) | |
| 19 | g.43733324C>G | CA406206181 | SMG9 | c.1339G>C (p.Gly447Arg) c.607G>C (p.Gly203Arg) | |
| 19 | g.43733324C>T | CA406206182 | SMG9 | c.1339G>A (p.Gly447Arg) c.607G>A (p.Gly203Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.43733326_43733328dup | CA633476712 | SMG9 | c.1337_1339dup (p.Ala446_Gly447insAla) c.605_607dup (p.Ala202_Gly203insAla) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.43733325T>A | CA507932740 | SMG9 | c.1338A>T (p.Ala446=) c.606A>T (p.Ala202=) | |
| 19 | g.43733325T>C | CA308802969 | SMG9 | c.1338A>G (p.Ala446=) c.606A>G (p.Ala202=) | dbSNP gnomAD v4 |
| 19 | g.43733325T>G | CA507932741 | SMG9 | c.1338A>C (p.Ala446=) c.606A>C (p.Ala202=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.43733325T= | CA2337635200 | SMG9 | c.1338A= (p.Ala446=) c.606A= (p.Ala202=) | |
| 19 | g.43733326G>A | CA406206184 | SMG9 | c.1337C>T (p.Ala446Val) c.605C>T (p.Ala202Val) | |
| 19 | g.43733326G>C | CA406206186 | SMG9 | c.1337C>G (p.Ala446Gly) c.605C>G (p.Ala202Gly) | |
| 19 | g.43733326G>T | CA406206190 | SMG9 | c.1337C>A (p.Ala446Glu) c.605C>A (p.Ala202Glu) | |
| 19 | g.43733327C>A | CA406206192 | SMG9 | c.1336G>T (p.Ala446Ser) c.604G>T (p.Ala202Ser) | |
| 19 | g.43733327C= | CA2337635201 | SMG9 | c.1336G= (p.Ala446=) c.604G= (p.Ala202=) | |
| 19 | g.43733327C>G | CA406206195 | SMG9 | c.1336G>C (p.Ala446Pro) c.604G>C (p.Ala202Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733327C>T | CA406206194 | SMG9 | c.1336G>A (p.Ala446Thr) c.604G>A (p.Ala202Thr) | |
| 19 | g.43733328T>A | CA406206197 | SMG9 | c.1335A>T (p.Arg445Ser) c.603A>T (p.Arg201Ser) | |
| 19 | g.43733328T>C | CA507932745 | SMG9 | c.1335A>G (p.Arg445=) c.603A>G (p.Arg201=) | |
| 19 | g.43733328T>G | CA406206199 | SMG9 | c.1335A>C (p.Arg445Ser) c.603A>C (p.Arg201Ser) | |
| 19 | g.43733329C>A | CA406206201 | SMG9 | c.1334G>T (p.Arg445Ile) c.602G>T (p.Arg201Ile) | |
| 19 | g.43733329C= | CA2337635203 | SMG9 | c.1334G= (p.Arg445=) c.602G= (p.Arg201=) | |
| 19 | g.43733329C>G | CA406206202 | SMG9 | c.1334G>C (p.Arg445Thr) c.602G>C (p.Arg201Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.43733329C>T | CA406206204 | SMG9 | c.1334G>A (p.Arg445Lys) c.602G>A (p.Arg201Lys) | dbSNP |
| 19 | g.43733329_43733333delinsCTTGG | CA2337635202 | SMG9 | c.1330_1334delinsCCAAG (p.Pro444=) c.598_602delinsCCAAG (p.Pro200=) | |
| 19 | g.43733330T>A | CA406206208 | SMG9 | c.1333A>T (p.Arg445Ter) c.601A>T (p.Arg201Ter) | |
| 19 | g.43733330T>C | CA406206206 | SMG9 | c.1333A>G (p.Arg445Gly) c.601A>G (p.Arg201Gly) | |
| 19 | g.43733330T>G | CA507932749 | SMG9 | c.1333A>C (p.Arg445=) c.601A>C (p.Arg201=) | |
| 19 | g.43733331_43733334del | CA633476713 | SMG9 | c.1330_1333del (p.Pro444GlufsTer26) c.598_601del (p.Pro200GlufsTer26) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733331T>A | CA507932752 | SMG9 | c.1332A>T (p.Pro444=) c.600A>T (p.Pro200=) | |
| 19 | g.43733331T>C | CA507932751 | SMG9 | c.1332A>G (p.Pro444=) c.600A>G (p.Pro200=) | dbSNP gnomAD v2 |
| 19 | g.43733331T>G | CA507932750 | SMG9 | c.1332A>C (p.Pro444=) c.600A>C (p.Pro200=) | |
| 19 | g.43733331T= | CA2337635204 | SMG9 | c.1332A= (p.Pro444=) c.600A= (p.Pro200=) | |
| 19 | g.43733332G>A | CA406206210 | SMG9 | c.1331C>T (p.Pro444Leu) c.599C>T (p.Pro200Leu) | gnomAD v4 |
| 19 | g.43733332G>C | CA406206212 | SMG9 | c.1331C>G (p.Pro444Arg) c.599C>G (p.Pro200Arg) | |
| 19 | g.43733332G>T | CA406206213 | SMG9 | c.1331C>A (p.Pro444Gln) c.599C>A (p.Pro200Gln) | |
| 19 | g.43733333G>A | CA406206215 | SMG9 | c.1330C>T (p.Pro444Ser) c.598C>T (p.Pro200Ser) | |
| 19 | g.43733333G>C | CA406206217 | SMG9 | c.1330C>G (p.Pro444Ala) c.598C>G (p.Pro200Ala) | |
| 19 | g.43733333G>T | CA406206219 | SMG9 | c.1330C>A (p.Pro444Thr) c.598C>A (p.Pro200Thr) | |
| 19 | g.43733334T>A | CA507932756 | SMG9 | c.1329A>T (p.Pro443=) c.597A>T (p.Pro199=) | |
| 19 | g.43733334T>C | CA507932758 | SMG9 | c.1329A>G (p.Pro443=) c.597A>G (p.Pro199=) | |
| 19 | g.43733334T>G | CA507932759 | SMG9 | c.1329A>C (p.Pro443=) c.597A>C (p.Pro199=) | |
| 19 | g.43733335G>A | CA406206225 | SMG9 | c.1328C>T (p.Pro443Leu) c.596C>T (p.Pro199Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733335G>C | CA406206221 | SMG9 | c.1328C>G (p.Pro443Arg) c.596C>G (p.Pro199Arg) | |
| 19 | g.43733335G= | CA2337635205 | SMG9 | c.1328C= (p.Pro443=) c.596C= (p.Pro199=) | |
| 19 | g.43733335G>T | CA406206223 | SMG9 | c.1328C>A (p.Pro443Gln) c.596C>A (p.Pro199Gln) | |
| 19 | g.43733336G>A | CA406206226 | SMG9 | c.1327C>T (p.Pro443Ser) c.595C>T (p.Pro199Ser) | |
| 19 | g.43733336G>C | CA308802984 | SMG9 | c.1327C>G (p.Pro443Ala) c.595C>G (p.Pro199Ala) | dbSNP gnomAD v4 |
| 19 | g.43733336G= | CA2337635206 | SMG9 | c.1327C= (p.Pro443=) c.595C= (p.Pro199=) | |
| 19 | g.43733336G>T | CA406206229 | SMG9 | c.1327C>A (p.Pro443Thr) c.595C>A (p.Pro199Thr) | |
| 19 | g.43733336_43733337insTCGCC | CA633476714 | SMG9 | c.1326_1327insGGCGA (p.Pro443GlyfsTer30) c.594_595insGGCGA (p.Pro199GlyfsTer30) | dbSNP gnomAD v2 |
| 19 | g.43733337G>A | CA507932763 | SMG9 | c.1326C>T (p.Asn442=) c.594C>T (p.Asn198=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.43733337G>C | CA406206231 | SMG9 | c.1326C>G (p.Asn442Lys) c.594C>G (p.Asn198Lys) | gnomAD v4 |
| 19 | g.43733337G= | CA2337635207 | SMG9 | c.1326C= (p.Asn442=) c.594C= (p.Asn198=) | |
| 19 | g.43733337G>T | CA406206233 | SMG9 | c.1326C>A (p.Asn442Lys) c.594C>A (p.Asn198Lys) | |
| 19 | g.43733337_43733338delinsGT | CA2337635208 | SMG9 | c.1325_1326delinsAC (p.Asn442=) c.593_594delinsAC (p.Asn198=) | |
| 19 | g.43733338T>A | CA406206238 | SMG9 | c.1325A>T (p.Asn442Ile) c.593A>T (p.Asn198Ile) | |
| 19 | g.43733338T>C | CA406206235 | SMG9 | c.1325A>G (p.Asn442Ser) c.593A>G (p.Asn198Ser) | |
| 19 | g.43733338T>G | CA406206237 | SMG9 | c.1325A>C (p.Asn442Thr) c.593A>C (p.Asn198Thr) | |
| 19 | g.43733341del | CA996178565 | SMG9 | c.1325del (p.Asn442ThrfsTer29) c.593del (p.Asn198ThrfsTer29) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.43733339T>A | CA406206240 | SMG9 | c.1324A>T (p.Asn442Tyr) c.592A>T (p.Asn198Tyr) | |
| 19 | g.43733339T>C | CA406206242 | SMG9 | c.1324A>G (p.Asn442Asp) c.592A>G (p.Asn198Asp) | |
| 19 | g.43733339T>G | CA406206243 | SMG9 | c.1324A>C (p.Asn442His) c.592A>C (p.Asn198His) | |
| 19 | g.43733340T>A | CA406206245 | SMG9 | c.1323A>T (p.Glu441Asp) c.591A>T (p.Glu197Asp) | |
| 19 | g.43733340T>C | CA507932765 | SMG9 | c.1323A>G (p.Glu441=) c.591A>G (p.Glu197=) | |
| 19 | g.43733340T>G | CA406206247 | SMG9 | c.1323A>C (p.Glu441Asp) c.591A>C (p.Glu197Asp) | |
| 19 | g.43733341T>A | CA406206248 | SMG9 | c.1322A>T (p.Glu441Val) c.590A>T (p.Glu197Val) | |
| 19 | g.43733341T>C | CA406206250 | SMG9 | c.1322A>G (p.Glu441Gly) c.590A>G (p.Glu197Gly) | |
| 19 | g.43733341T>G | CA406206252 | SMG9 | c.1322A>C (p.Glu441Ala) c.590A>C (p.Glu197Ala) | |
| 19 | g.43733342C>A | CA406206254 | SMG9 | c.1321G>T (p.Glu441Ter) c.589G>T (p.Glu197Ter) | |
| 19 | g.43733342C>G | CA406206255 | SMG9 | c.1321G>C (p.Glu441Gln) c.589G>C (p.Glu197Gln) | |
| 19 | g.43733342C>T | CA406206257 | SMG9 | c.1321G>A (p.Glu441Lys) c.589G>A (p.Glu197Lys) | |
| 19 | g.43733343A>C | CA406206259 | SMG9 | c.1320T>G (p.Ser440Arg) c.588T>G (p.Ser196Arg) | |
| 19 | g.43733343A>G | CA507932769 | SMG9 | c.1320T>C (p.Ser440=) c.588T>C (p.Ser196=) | gnomAD v4 |
| 19 | g.43733343A>T | CA406206260 | SMG9 | c.1320T>A (p.Ser440Arg) c.588T>A (p.Ser196Arg) | |
| 19 | g.43733344C>A | CA406206262 | SMG9 | c.1319G>T (p.Ser440Ile) n.563G>T c.587G>T (p.Ser196Ile) | |
| 19 | g.43733344C= | CA2337635209 | SMG9 | c.1319G= (p.Ser440=) n.563G= c.587G= (p.Ser196=) | |
| 19 | g.43733344C>G | CA406206263 | SMG9 | c.1319G>C (p.Ser440Thr) n.563G>C c.587G>C (p.Ser196Thr) | |
| 19 | g.43733344C>T | CA9491193 | SMG9 | c.1319G>A (p.Ser440Asn) n.563G>A c.587G>A (p.Ser196Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733348_43733349del | CA2695228900 | SMG9 | c.1318_1319del (p.Ser440Ter) n.562_563del c.586_587del (p.Ser196Ter) | |
| 19 | g.43733345T>A | CA406206265 | SMG9 | c.1318A>T (p.Ser440Cys) n.562A>T c.586A>T (p.Ser196Cys) | |
| 19 | g.43733345T>C | CA406206267 | SMG9 | c.1318A>G (p.Ser440Gly) n.562A>G c.586A>G (p.Ser196Gly) | |
| 19 | g.43733345T>G | CA406206268 | SMG9 | c.1318A>C (p.Ser440Arg) n.562A>C c.586A>C (p.Ser196Arg) | |
| 19 | g.43733346C>A | CA406206270 | SMG9 | c.1317G>T (p.Glu439Asp) n.561G>T c.585G>T (p.Glu195Asp) | |
| 19 | g.43733346C>G | CA406206271 | SMG9 | c.1317G>C (p.Glu439Asp) n.561G>C c.585G>C (p.Glu195Asp) | gnomAD v4 |
| 19 | g.43733346C>T | CA507932772 | SMG9 | c.1317G>A (p.Glu439=) n.561G>A c.585G>A (p.Glu195=) | |
| 19 | g.43733347T>A | CA406206275 | SMG9 | c.1316A>T (p.Glu439Val) n.560A>T c.584A>T (p.Glu195Val) | |
| 19 | g.43733347T>C | CA406206274 | SMG9 | c.1316A>G (p.Glu439Gly) n.560A>G c.584A>G (p.Glu195Gly) | gnomAD v4 |
| 19 | g.43733347T>G | CA406206273 | SMG9 | c.1316A>C (p.Glu439Ala) n.560A>C c.584A>C (p.Glu195Ala) | |
| 19 | g.43733348C>A | CA308802991 | SMG9 | c.1315G>T (p.Glu439Ter) n.559G>T c.583G>T (p.Glu195Ter) | dbSNP |
| 19 | g.43733348C= | CA2337635210 | SMG9 | c.1315G= (p.Glu439=) n.559G= c.583G= (p.Glu195=) | |
| 19 | g.43733348C>G | CA406206278 | SMG9 | c.1315G>C (p.Glu439Gln) n.559G>C c.583G>C (p.Glu195Gln) | |
| 19 | g.43733348C>T | CA406206279 | SMG9 | c.1315G>A (p.Glu439Lys) n.559G>A c.583G>A (p.Glu195Lys) | |
| 19 | g.43733349T>A | CA507932777 | SMG9 | c.1314A>T (p.Ala438=) n.558A>T c.582A>T (p.Ala194=) | |
| 19 | g.43733349T>C | CA507932778 | SMG9 | c.1314A>G (p.Ala438=) n.558A>G c.582A>G (p.Ala194=) | |
| 19 | g.43733349T>G | CA507932779 | SMG9 | c.1314A>C (p.Ala438=) n.558A>C c.582A>C (p.Ala194=) | |
| 19 | g.43733350G>A | CA406206281 | SMG9 | c.1313C>T (p.Ala438Val) n.557C>T c.581C>T (p.Ala194Val) | |
| 19 | g.43733350G>C | CA406206285 | SMG9 | c.1313C>G (p.Ala438Gly) n.557C>G c.581C>G (p.Ala194Gly) | |
| 19 | g.43733350G>T | CA406206287 | SMG9 | c.1313C>A (p.Ala438Glu) n.557C>A c.581C>A (p.Ala194Glu) | |
| 19 | g.43733351C>A | CA406206291 | SMG9 | c.1312G>T (p.Ala438Ser) n.556G>T c.580G>T (p.Ala194Ser) | |
| 19 | g.43733351C>G | CA406206289 | SMG9 | c.1312G>C (p.Ala438Pro) n.556G>C c.580G>C (p.Ala194Pro) | |
| 19 | g.43733351C>T | CA406206290 | SMG9 | c.1312G>A (p.Ala438Thr) n.556G>A c.580G>A (p.Ala194Thr) | |
| 19 | g.43733352T>A | CA406206293 | SMG9 | c.1311A>T (p.Glu437Asp) n.555A>T c.579A>T (p.Glu193Asp) | |
| 19 | g.43733352T>C | CA507932786 | SMG9 | c.1311A>G (p.Glu437=) n.555A>G c.579A>G (p.Glu193=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.43733352T>G | CA406206294 | SMG9 | c.1311A>C (p.Glu437Asp) n.555A>C c.579A>C (p.Glu193Asp) | |
| 19 | g.43733352T= | CA2337635211 | SMG9 | c.1311A= (p.Glu437=) n.555A= c.579A= (p.Glu193=) | |
| 19 | g.43733353T>A | CA406206296 | SMG9 | c.1310A>T (p.Glu437Val) n.554A>T c.578A>T (p.Glu193Val) | |
| 19 | g.43733353T>C | CA406206298 | SMG9 | c.1310A>G (p.Glu437Gly) n.554A>G c.578A>G (p.Glu193Gly) | |
| 19 | g.43733353T>G | CA406206299 | SMG9 | c.1310A>C (p.Glu437Ala) n.554A>C c.578A>C (p.Glu193Ala) | |
| 19 | g.43733354C>A | CA406206301 | SMG9 | c.1309G>T (p.Glu437Ter) n.553G>T c.577G>T (p.Glu193Ter) | |
| 19 | g.43733354C>G | CA406206303 | SMG9 | c.1309G>C (p.Glu437Gln) n.553G>C c.577G>C (p.Glu193Gln) | |
| 19 | g.43733354C>T | CA406206305 | SMG9 | c.1309G>A (p.Glu437Lys) n.553G>A c.577G>A (p.Glu193Lys) | |
| 19 | g.43733355A>C | CA406206306 | SMG9 | c.1308T>G (p.Ser436Arg) n.552T>G c.576T>G (p.Ser192Arg) | |
| 19 | g.43733355A>G | CA507932792 | SMG9 | c.1308T>C (p.Ser436=) n.552T>C c.576T>C (p.Ser192=) | gnomAD v4 |
| 19 | g.43733355A>T | CA406206308 | SMG9 | c.1308T>A (p.Ser436Arg) n.552T>A c.576T>A (p.Ser192Arg) | |
| 19 | g.43733356C>A | CA406206310 | SMG9 | c.1307G>T (p.Ser436Ile) n.551G>T c.575G>T (p.Ser192Ile) | dbSNP |
| 19 | g.43733356C>G | CA406206312 | SMG9 | c.1307G>C (p.Ser436Thr) n.551G>C c.575G>C (p.Ser192Thr) | |
| 19 | g.43733356C>T | CA406206313 | SMG9 | c.1307G>A (p.Ser436Asn) n.551G>A c.575G>A (p.Ser192Asn) | |
| 19 | g.43733357T>A | CA406206316 | SMG9 | c.1306A>T (p.Ser436Cys) n.550A>T c.574A>T (p.Ser192Cys) | |
| 19 | g.43733357T>C | CA406206318 | SMG9 | c.1306A>G (p.Ser436Gly) n.550A>G c.574A>G (p.Ser192Gly) | gnomAD v4 |
| 19 | g.43733357T>G | CA406206317 | SMG9 | c.1306A>C (p.Ser436Arg) n.550A>C c.574A>C (p.Ser192Arg) | |
| 19 | g.43733358G>A | CA507932797 | SMG9 | c.1305C>T (p.Asp435=) n.549C>T c.573C>T (p.Asp191=) | gnomAD v4 |
| 19 | g.43733358G>C | CA406206320 | SMG9 | c.1305C>G (p.Asp435Glu) n.549C>G c.573C>G (p.Asp191Glu) | |
| 19 | g.43733358G>T | CA406206322 | SMG9 | c.1305C>A (p.Asp435Glu) n.549C>A c.573C>A (p.Asp191Glu) | |
| 19 | g.43733359T>A | CA406206326 | SMG9 | c.1304A>T (p.Asp435Val) n.548A>T c.572A>T (p.Asp191Val) | dbSNP |
| 19 | g.43733359T>C | CA406206327 | SMG9 | c.1304A>G (p.Asp435Gly) n.548A>G c.572A>G (p.Asp191Gly) | |
| 19 | g.43733359T>G | CA406206329 | SMG9 | c.1304A>C (p.Asp435Ala) n.548A>C c.572A>C (p.Asp191Ala) | |
| 19 | g.43733359T= | CA2337635212 | SMG9 | c.1304A= (p.Asp435=) n.548A= c.572A= (p.Asp191=) | |
| 19 | g.43733360C>A | CA406206331 | SMG9 | c.1303G>T (p.Asp435Tyr) n.547G>T c.571G>T (p.Asp191Tyr) | |
| 19 | g.43733360C= | CA2337635213 | SMG9 | c.1303G= (p.Asp435=) n.547G= c.571G= (p.Asp191=) | |
| 19 | g.43733360C>G | CA406206332 | SMG9 | c.1303G>C (p.Asp435His) n.547G>C c.571G>C (p.Asp191His) | |
| 19 | g.43733360C>T | CA9491194 | SMG9 | c.1303G>A (p.Asp435Asn) n.547G>A c.571G>A (p.Asp191Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.43733361C>A | CA406206334 | SMG9 | c.1302G>T (p.Met434Ile) n.546G>T c.570G>T (p.Met190Ile) | |
| 19 | g.43733361C= | CA2337635214 | SMG9 | c.1302G= (p.Met434=) n.546G= c.570G= (p.Met190=) | |
| 19 | g.43733361C>G | CA308802997 | SMG9 | c.1302G>C (p.Met434Ile) n.546G>C c.570G>C (p.Met190Ile) | dbSNP gnomAD v4 |
| 19 | g.43733361C>T | CA9491195 | SMG9 | c.1302G>A (p.Met434Ile) n.546G>A c.570G>A (p.Met190Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.43733362A>C | CA406206341 | SMG9 | c.1301T>G (p.Met434Arg) n.545T>G c.569T>G (p.Met190Arg) | |
| 19 | g.43733362A>G | CA406206339 | SMG9 | c.1301T>C (p.Met434Thr) n.545T>C c.569T>C (p.Met190Thr) | |
| 19 | g.43733362A>T | CA406206337 | SMG9 | c.1301T>A (p.Met434Lys) n.545T>A c.569T>A (p.Met190Lys) | |
| 19 | g.43733363T>A | CA406206342 | SMG9 | c.1300A>T (p.Met434Leu) n.544A>T c.568A>T (p.Met190Leu) | |
| 19 | g.43733363T>C | CA406206344 | SMG9 | c.1300A>G (p.Met434Val) n.544A>G c.568A>G (p.Met190Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.43733363T>G | CA406206346 | SMG9 | c.1300A>C (p.Met434Leu) n.544A>C c.568A>C (p.Met190Leu) | |
| 19 | g.43733363T= | CA2337635215 | SMG9 | c.1300A= (p.Met434=) n.544A= c.568A= (p.Met190=) | |
| 19 | g.43733364G>A | CA9491196 | SMG9 | c.1299C>T (p.Phe433=) n.543C>T c.567C>T (p.Phe189=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733364G>C | CA406206349 | SMG9 | c.1299C>G (p.Phe433Leu) n.543C>G c.567C>G (p.Phe189Leu) | |
| 19 | g.43733364G= | CA2337635216 | SMG9 | c.1299C= (p.Phe433=) n.543C= c.567C= (p.Phe189=) | |
| 19 | g.43733364G>T | CA406206350 | SMG9 | c.1299C>A (p.Phe433Leu) n.543C>A c.567C>A (p.Phe189Leu) | |
| 19 | g.43733365A>C | CA406206352 | SMG9 | c.1298T>G (p.Phe433Cys) n.542T>G c.566T>G (p.Phe189Cys) | |
| 19 | g.43733365A>G | CA406206353 | SMG9 | c.1298T>C (p.Phe433Ser) n.542T>C c.566T>C (p.Phe189Ser) | gnomAD v4 |
| 19 | g.43733365A>T | CA406206354 | SMG9 | c.1298T>A (p.Phe433Tyr) n.542T>A c.566T>A (p.Phe189Tyr) | |
| 19 | g.43733366A>C | CA406206356 | SMG9 | c.1297T>G (p.Phe433Val) n.541T>G c.565T>G (p.Phe189Val) | |
| 19 | g.43733366A>G | CA406206358 | SMG9 | c.1297T>C (p.Phe433Leu) n.541T>C c.565T>C (p.Phe189Leu) | |
| 19 | g.43733366A>T | CA406206359 | SMG9 | c.1297T>A (p.Phe433Ile) n.541T>A c.565T>A (p.Phe189Ile) | |
| 19 | g.43733366_43733367delinsAG | CA2337635217 | SMG9 | c.1296_1297delinsCT (p.Pro432=) n.540_541delinsCT c.564_565delinsCT (p.Pro188=) | |
| 19 | g.43733367G>A | CA507932814 | SMG9 | c.1296C>T (p.Pro432=) n.540C>T c.564C>T (p.Pro188=) | |
| 19 | g.43733367G>C | CA507932816 | SMG9 | c.1296C>G (p.Pro432=) n.540C>G c.564C>G (p.Pro188=) | |
| 19 | g.43733367G>T | CA507932817 | SMG9 | c.1296C>A (p.Pro432=) n.540C>A c.564C>A (p.Pro188=) | |
| 19 | g.43733369del | CA2337635218 | SMG9 | c.1296del (p.Phe433SerfsTer?) n.540del c.564del (p.Phe189SerfsTer?) | dbSNP |
| 19 | g.43733368G>A | CA406206361 | SMG9 | c.1295C>T (p.Pro432Leu) n.539C>T c.563C>T (p.Pro188Leu) | gnomAD v4 |
| 19 | g.43733368G>C | CA406206364 | SMG9 | c.1295C>G (p.Pro432Arg) n.539C>G c.563C>G (p.Pro188Arg) | |
| 19 | g.43733368G>T | CA406206363 | SMG9 | c.1295C>A (p.Pro432His) n.539C>A c.563C>A (p.Pro188His) | |
| 19 | g.43733369G>A | CA308803001 | SMG9 | c.1294C>T (p.Pro432Ser) n.538C>T c.562C>T (p.Pro188Ser) | dbSNP |
| 19 | g.43733369G>C | CA406206368 | SMG9 | c.1294C>G (p.Pro432Ala) n.538C>G c.562C>G (p.Pro188Ala) | |
| 19 | g.43733369G= | CA2337635219 | SMG9 | c.1294C= (p.Pro432=) n.538C= c.562C= (p.Pro188=) | |
| 19 | g.43733369G>T | CA406206366 | SMG9 | c.1294C>A (p.Pro432Thr) n.538C>A c.562C>A (p.Pro188Thr) | |
| 19 | g.43733370T>A | CA507932822 | SMG9 | c.1293A>T (p.Val431=) n.537A>T c.561A>T (p.Val187=) | |
| 19 | g.43733370T>C | CA507932824 | SMG9 | c.1293A>G (p.Val431=) n.537A>G c.561A>G (p.Val187=) | |
| 19 | g.43733370T>G | CA507932825 | SMG9 | c.1293A>C (p.Val431=) n.537A>C c.561A>C (p.Val187=) | |
| 19 | g.43733371A>C | CA406206370 | SMG9 | c.1292T>G (p.Val431Gly) n.536T>G c.560T>G (p.Val187Gly) | |
| 19 | g.43733371A>G | CA406206373 | SMG9 | c.1292T>C (p.Val431Ala) n.536T>C c.560T>C (p.Val187Ala) | |
| 19 | g.43733371A>T | CA406206372 | SMG9 | c.1292T>A (p.Val431Glu) n.536T>A c.560T>A (p.Val187Glu) | |
| 19 | g.43733372C>A | CA406206375 | SMG9 | c.1291G>T (p.Val431Leu) n.535G>T c.559G>T (p.Val187Leu) | |
| 19 | g.43733372C>G | CA406206379 | SMG9 | c.1291G>C (p.Val431Leu) n.535G>C c.559G>C (p.Val187Leu) | |
| 19 | g.43733372C>T | CA406206377 | SMG9 | c.1291G>A (p.Val431Ile) n.535G>A c.559G>A (p.Val187Ile) | |
| 19 | g.43733373C>A | CA507932829 | SMG9 | c.1290G>T (p.Leu430=) n.534G>T c.558G>T (p.Leu186=) | |
| 19 | g.43733373C= | CA2337635220 | SMG9 | c.1290G= (p.Leu430=) n.534G= c.558G= (p.Leu186=) | |
| 19 | g.43733373C>G | CA507932831 | SMG9 | c.1290G>C (p.Leu430=) n.534G>C c.558G>C (p.Leu186=) | |
| 19 | g.43733373C>T | CA9491197 | SMG9 | c.1290G>A (p.Leu430=) n.534G>A c.558G>A (p.Leu186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733374A= | CA2337635221 | SMG9 | c.1289T= (p.Leu430=) n.533T= c.557T= (p.Leu186=) | |
| 19 | g.43733374A>C | CA406206381 | SMG9 | c.1289T>G (p.Leu430Arg) n.533T>G c.557T>G (p.Leu186Arg) | |
| 19 | g.43733374A>G | CA9491198 | SMG9 | c.1289T>C (p.Leu430Pro) n.533T>C c.557T>C (p.Leu186Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.43733374A>T | CA406206383 | SMG9 | c.1289T>A (p.Leu430Gln) n.533T>A c.557T>A (p.Leu186Gln) | |
| 19 | g.43733375G>A | CA507932833 | SMG9 | c.1288C>T (p.Leu430=) n.532C>T c.556C>T (p.Leu186=) | |
| 19 | g.43733375G>C | CA406206385 | SMG9 | c.1288C>G (p.Leu430Val) n.532C>G c.556C>G (p.Leu186Val) | |
| 19 | g.43733375G>T | CA406206386 | SMG9 | c.1288C>A (p.Leu430Met) n.532C>A c.556C>A (p.Leu186Met) | |
| 19 | g.43733376G>A | CA9491199 | SMG9 | c.1287C>T (p.Phe429=) n.531C>T c.555C>T (p.Phe185=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733376G>C | CA406206389 | SMG9 | c.1287C>G (p.Phe429Leu) n.531C>G c.555C>G (p.Phe185Leu) | |
| 19 | g.43733376G= | CA2337635222 | SMG9 | c.1287C= (p.Phe429=) n.531C= c.555C= (p.Phe185=) | |
| 19 | g.43733376G>T | CA406206391 | SMG9 | c.1287C>A (p.Phe429Leu) n.531C>A c.555C>A (p.Phe185Leu) | |
| 19 | g.43733377A>C | CA406206393 | SMG9 | c.1286T>G (p.Phe429Cys) n.530T>G c.554T>G (p.Phe185Cys) | |
| 19 | g.43733377A>G | CA406206395 | SMG9 | c.1286T>C (p.Phe429Ser) n.530T>C c.554T>C (p.Phe185Ser) | |
| 19 | g.43733377A>T | CA406206397 | SMG9 | c.1286T>A (p.Phe429Tyr) n.530T>A c.554T>A (p.Phe185Tyr) | |
| 19 | g.43733378_43733402del | CA633476715 | SMG9 | c.1262_1286del (p.Phe421SerfsTer?) n.506_530del c.530_554del (p.Phe177SerfsTer?) | gnomAD v2 |
| 19 | g.43733378A>C | CA406206399 | SMG9 | c.1285T>G (p.Phe429Val) n.529T>G c.553T>G (p.Phe185Val) | |
| 19 | g.43733378A>G | CA406206402 | SMG9 | c.1285T>C (p.Phe429Leu) n.529T>C c.553T>C (p.Phe185Leu) | |
| 19 | g.43733378A>T | CA406206401 | SMG9 | c.1285T>A (p.Phe429Ile) n.529T>A c.553T>A (p.Phe185Ile) | |
| 19 | g.43733379T>A | CA406206403 | SMG9 | c.1284A>T (p.Leu428Phe) n.528A>T c.552A>T (p.Leu184Phe) | gnomAD v4 |
| 19 | g.43733379T>C | CA507932838 | SMG9 | c.1284A>G (p.Leu428=) n.528A>G c.552A>G (p.Leu184=) | |
| 19 | g.43733379T>G | CA406206405 | SMG9 | c.1284A>C (p.Leu428Phe) n.528A>C c.552A>C (p.Leu184Phe) | COSMIC |
| 19 | g.43733380A>C | CA406206407 | SMG9 | c.1283T>G (p.Leu428Ter) n.527T>G c.551T>G (p.Leu184Ter) | |
| 19 | g.43733380A>G | CA406206409 | SMG9 | c.1283T>C (p.Leu428Ser) n.527T>C c.551T>C (p.Leu184Ser) | |
| 19 | g.43733380A>T | CA406206410 | SMG9 | c.1283T>A (p.Leu428Ter) n.527T>A c.551T>A (p.Leu184Ter) | |
| 19 | g.43733381A>C | CA406206412 | SMG9 | c.1282T>G (p.Leu428Val) n.526T>G c.550T>G (p.Leu184Val) | |
| 19 | g.43733381A>G | CA507932841 | SMG9 | c.1282T>C (p.Leu428=) n.526T>C c.550T>C (p.Leu184=) | |
| 19 | g.43733381A>T | CA406206414 | SMG9 | c.1282T>A (p.Leu428Ile) n.526T>A c.550T>A (p.Leu184Ile) | |
| 19 | g.43733382G>A | CA507932842 | SMG9 | c.1281C>T (p.Asn427=) n.525C>T c.549C>T (p.Asn183=) | |
| 19 | g.43733382G>C | CA406206416 | SMG9 | c.1281C>G (p.Asn427Lys) n.525C>G c.549C>G (p.Asn183Lys) | |
| 19 | g.43733382G>T | CA406206417 | SMG9 | c.1281C>A (p.Asn427Lys) n.525C>A c.549C>A (p.Asn183Lys) | |
| 19 | g.43733383T>A | CA406206421 | SMG9 | c.1280A>T (p.Asn427Ile) n.524A>T c.548A>T (p.Asn183Ile) | |
| 19 | g.43733383T>C | CA406206420 | SMG9 | c.1280A>G (p.Asn427Ser) n.524A>G c.548A>G (p.Asn183Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.43733383T>G | CA9491200 | SMG9 | c.1280A>C (p.Asn427Thr) n.524A>C c.548A>C (p.Asn183Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.43733383T= | CA2337635223 | SMG9 | c.1280A= (p.Asn427=) n.524A= c.548A= (p.Asn183=) | |
| 19 | g.43733384T>A | CA406206423 | SMG9 | c.1279A>T (p.Asn427Tyr) n.523A>T c.547A>T (p.Asn183Tyr) | |
| 19 | g.43733384T>C | CA406206424 | SMG9 | c.1279A>G (p.Asn427Asp) n.523A>G c.547A>G (p.Asn183Asp) | |
| 19 | g.43733384T>G | CA406206425 | SMG9 | c.1279A>C (p.Asn427His) n.523A>C c.547A>C (p.Asn183His) | |
| 19 | g.43733385G>A | CA507932846 | SMG9 | c.1278C>T (p.Val426=) n.522C>T c.546C>T (p.Val182=) | |
| 19 | g.43733385G>C | CA507932847 | SMG9 | c.1278C>G (p.Val426=) n.522C>G c.546C>G (p.Val182=) | |
| 19 | g.43733385G>T | CA507932845 | SMG9 | c.1278C>A (p.Val426=) n.522C>A c.546C>A (p.Val182=) | |
| 19 | g.43733386A>C | CA406206427 | SMG9 | c.1277T>G (p.Val426Gly) n.521T>G c.545T>G (p.Val182Gly) | gnomAD v4 |
| 19 | g.43733386A>G | CA406206429 | SMG9 | c.1277T>C (p.Val426Ala) n.521T>C c.545T>C (p.Val182Ala) | |
| 19 | g.43733386A>T | CA406206430 | SMG9 | c.1277T>A (p.Val426Asp) n.521T>A c.545T>A (p.Val182Asp) | |
| 19 | g.43733387C>A | CA406206433 | SMG9 | c.1276G>T (p.Val426Phe) n.520G>T c.544G>T (p.Val182Phe) | |
| 19 | g.43733387C= | CA2337635224 | SMG9 | c.1276G= (p.Val426=) n.520G= c.544G= (p.Val182=) | |
| 19 | g.43733387C>G | CA406206434 | SMG9 | c.1276G>C (p.Val426Leu) n.520G>C c.544G>C (p.Val182Leu) | |
| 19 | g.43733387C>T | CA406206435 | SMG9 | c.1276G>A (p.Val426Ile) n.520G>A c.544G>A (p.Val182Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.43733388C>A | CA406206436 | SMG9 | c.1275G>T (p.Glu425Asp) n.519G>T c.543G>T (p.Glu181Asp) | |
| 19 | g.43733388C= | CA2337635225 | SMG9 | c.1275G= (p.Glu425=) n.519G= c.543G= (p.Glu181=) | |
| 19 | g.43733388C>G | CA406206438 | SMG9 | c.1275G>C (p.Glu425Asp) n.519G>C c.543G>C (p.Glu181Asp) | |
| 19 | g.43733388C>T | CA9491201 | SMG9 | c.1275G>A (p.Glu425=) n.519G>A c.543G>A (p.Glu181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733389T>A | CA406206444 | SMG9 | c.1274A>T (p.Glu425Val) n.518A>T c.542A>T (p.Glu181Val) | |
| 19 | g.43733389T>C | CA406206441 | SMG9 | c.1274A>G (p.Glu425Gly) n.518A>G c.542A>G (p.Glu181Gly) | |
| 19 | g.43733389T>G | CA406206443 | SMG9 | c.1274A>C (p.Glu425Ala) n.518A>C c.542A>C (p.Glu181Ala) | |
| 19 | g.43733390C>A | CA406206446 | SMG9 | c.1273G>T (p.Glu425Ter) n.517G>T c.541G>T (p.Glu181Ter) | |
| 19 | g.43733390C>G | CA406206447 | SMG9 | c.1273G>C (p.Glu425Gln) n.517G>C c.541G>C (p.Glu181Gln) | |
| 19 | g.43733390C>T | CA406206449 | SMG9 | c.1273G>A (p.Glu425Lys) n.517G>A c.541G>A (p.Glu181Lys) | gnomAD v4 |
| 19 | g.43733391A>C | CA507932852 | SMG9 | c.1272T>G (p.Ser424=) n.516T>G c.540T>G (p.Ser180=) | |
| 19 | g.43733391A>G | CA507932851 | SMG9 | c.1272T>C (p.Ser424=) n.516T>C c.540T>C (p.Ser180=) | |
| 19 | g.43733391A>T | CA507932850 | SMG9 | c.1272T>A (p.Ser424=) n.516T>A c.540T>A (p.Ser180=) | |
| 19 | g.43733392G>A | CA406206451 | SMG9 | c.1271C>T (p.Ser424Phe) n.515C>T c.539C>T (p.Ser180Phe) | |
| 19 | g.43733392G>C | CA406206453 | SMG9 | c.1271C>G (p.Ser424Cys) n.515C>G c.539C>G (p.Ser180Cys) | |
| 19 | g.43733392G>T | CA406206454 | SMG9 | c.1271C>A (p.Ser424Tyr) n.515C>A c.539C>A (p.Ser180Tyr) | |
| 19 | g.43733393A>C | CA406206456 | SMG9 | c.1270T>G (p.Ser424Ala) n.514T>G c.538T>G (p.Ser180Ala) | |
| 19 | g.43733393A>G | CA406206458 | SMG9 | c.1270T>C (p.Ser424Pro) n.514T>C c.538T>C (p.Ser180Pro) | |
| 19 | g.43733393A>T | CA406206460 | SMG9 | c.1270T>A (p.Ser424Thr) n.514T>A c.538T>A (p.Ser180Thr) | |
| 19 | g.43733394G>A | CA507932855 | SMG9 | c.1269C>T (p.Asp423=) n.513C>T c.537C>T (p.Asp179=) | |
| 19 | g.43733394G>C | CA406206461 | SMG9 | c.1269C>G (p.Asp423Glu) n.513C>G c.537C>G (p.Asp179Glu) | |
| 19 | g.43733394G>T | CA406206462 | SMG9 | c.1269C>A (p.Asp423Glu) n.513C>A c.537C>A (p.Asp179Glu) | |
| 19 | g.43733395T>A | CA406206464 | SMG9 | c.1268A>T (p.Asp423Val) n.512A>T c.536A>T (p.Asp179Val) | |
| 19 | g.43733395T>C | CA406206465 | SMG9 | c.1268A>G (p.Asp423Gly) n.512A>G c.536A>G (p.Asp179Gly) | |
| 19 | g.43733395T>G | CA406206463 | SMG9 | c.1268A>C (p.Asp423Ala) n.512A>C c.536A>C (p.Asp179Ala) | |
| 19 | g.43733396C>A | CA406206466 | SMG9 | c.1267G>T (p.Asp423Tyr) n.511G>T c.535G>T (p.Asp179Tyr) | |
| 19 | g.43733396C>G | CA406206467 | SMG9 | c.1267G>C (p.Asp423His) n.511G>C c.535G>C (p.Asp179His) | |
| 19 | g.43733396C>T | CA406206468 | SMG9 | c.1267G>A (p.Asp423Asn) n.511G>A c.535G>A (p.Asp179Asn) | |
| 19 | g.43733397C>A | CA507932858 | SMG9 | c.1266G>T (p.Leu422=) n.510G>T c.534G>T (p.Leu178=) | |
| 19 | g.43733397C= | CA2337635226 | SMG9 | c.1266G= (p.Leu422=) n.510G= c.534G= (p.Leu178=) | |
| 19 | g.43733397C>G | CA507932859 | SMG9 | c.1266G>C (p.Leu422=) n.510G>C c.534G>C (p.Leu178=) | |
| 19 | g.43733397C>T | CA507932861 | SMG9 | c.1266G>A (p.Leu422=) n.510G>A c.534G>A (p.Leu178=) | dbSNP |
| 19 | g.43733398A>C | CA406206469 | SMG9 | c.1265T>G (p.Leu422Arg) n.509T>G c.533T>G (p.Leu178Arg) | |
| 19 | g.43733398A>G | CA406206470 | SMG9 | c.1265T>C (p.Leu422Pro) n.509T>C c.533T>C (p.Leu178Pro) | |
| 19 | g.43733398A>T | CA406206471 | SMG9 | c.1265T>A (p.Leu422Gln) n.509T>A c.533T>A (p.Leu178Gln) | |
| 19 | g.43733399G>A | CA507932864 | SMG9 | c.1264C>T (p.Leu422=) n.508C>T c.532C>T (p.Leu178=) | |
| 19 | g.43733399G>C | CA406206472 | SMG9 | c.1264C>G (p.Leu422Val) n.508C>G c.532C>G (p.Leu178Val) | |
| 19 | g.43733399G= | CA2337635227 | SMG9 | c.1264C= (p.Leu422=) n.508C= c.532C= (p.Leu178=) | |
| 19 | g.43733399G>T | CA406206473 | SMG9 | c.1264C>A (p.Leu422Met) n.508C>A c.532C>A (p.Leu178Met) | dbSNP |
| 19 | g.43733400G>A | CA507932868 | SMG9 | c.1263C>T (p.Phe421=) n.507C>T c.531C>T (p.Phe177=) | gnomAD v4 |
| 19 | g.43733400G>C | CA406206474 | SMG9 | c.1263C>G (p.Phe421Leu) n.507C>G c.531C>G (p.Phe177Leu) | |
| 19 | g.43733400G>T | CA406206475 | SMG9 | c.1263C>A (p.Phe421Leu) n.507C>A c.531C>A (p.Phe177Leu) | |
| 19 | g.43733401A>C | CA406206476 | SMG9 | c.1262T>G (p.Phe421Cys) n.506T>G c.530T>G (p.Phe177Cys) | |
| 19 | g.43733401A>G | CA406206477 | SMG9 | c.1262T>C (p.Phe421Ser) n.506T>C c.530T>C (p.Phe177Ser) | |
| 19 | g.43733401A>T | CA406206478 | SMG9 | c.1262T>A (p.Phe421Tyr) n.506T>A c.530T>A (p.Phe177Tyr) | |
| 19 | g.43733402A= | CA2337635228 | SMG9 | c.1261T= (p.Phe421=) n.505T= c.529T= (p.Phe177=) | |
| 19 | g.43733402A>C | CA406206481 | SMG9 | c.1261T>G (p.Phe421Val) n.505T>G c.529T>G (p.Phe177Val) | |
| 19 | g.43733402A>G | CA406206480 | SMG9 | c.1261T>C (p.Phe421Leu) n.505T>C c.529T>C (p.Phe177Leu) | |
| 19 | g.43733402A>T | CA406206479 | SMG9 | c.1261T>A (p.Phe421Ile) n.505T>A c.529T>A (p.Phe177Ile) | dbSNP gnomAD v4 |
| 19 | g.43733403G>A | CA507932870 | SMG9 | c.1260C>T (p.Asp420=) n.504C>T c.528C>T (p.Asp176=) | |
| 19 | g.43733403G>C | CA406206482 | SMG9 | c.1260C>G (p.Asp420Glu) n.504C>G c.528C>G (p.Asp176Glu) | |
| 19 | g.43733403G>T | CA406206483 | SMG9 | c.1260C>A (p.Asp420Glu) n.504C>A c.528C>A (p.Asp176Glu) | |
| 19 | g.43733404T>A | CA406206484 | SMG9 | c.1259A>T (p.Asp420Val) n.503A>T c.527A>T (p.Asp176Val) | |
| 19 | g.43733404T>C | CA406206485 | SMG9 | c.1259A>G (p.Asp420Gly) n.503A>G c.527A>G (p.Asp176Gly) | dbSNP |
| 19 | g.43733404T>G | CA406206486 | SMG9 | c.1259A>C (p.Asp420Ala) n.503A>C c.527A>C (p.Asp176Ala) | |
| 19 | g.43733404T= | CA2337635229 | SMG9 | c.1259A= (p.Asp420=) n.503A= c.527A= (p.Asp176=) | |
| 19 | g.43733405C>A | CA406206487 | SMG9 | c.1258G>T (p.Asp420Tyr) n.502G>T c.526G>T (p.Asp176Tyr) | |
| 19 | g.43733405C= | CA2337635230 | SMG9 | c.1258G= (p.Asp420=) n.502G= c.526G= (p.Asp176=) | |
| 19 | g.43733405C>G | CA9491202 | SMG9 | c.1258G>C (p.Asp420His) n.502G>C c.526G>C (p.Asp176His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733405C>T | CA406206488 | SMG9 | c.1258G>A (p.Asp420Asn) n.502G>A c.526G>A (p.Asp176Asn) | |
| 19 | g.43733406A>C | CA507932879 | SMG9 | c.1257T>G (p.Pro419=) n.501T>G c.525T>G (p.Pro175=) | |
| 19 | g.43733406A>G | CA507932878 | SMG9 | c.1257T>C (p.Pro419=) n.501T>C c.525T>C (p.Pro175=) | |
| 19 | g.43733406A>T | CA507932876 | SMG9 | c.1257T>A (p.Pro419=) n.501T>A c.525T>A (p.Pro175=) | |
| 19 | g.43733407G>A | CA406206489 | SMG9 | c.1256C>T (p.Pro419Leu) n.500C>T c.524C>T (p.Pro175Leu) | |
| 19 | g.43733407G>C | CA406206490 | SMG9 | c.1256C>G (p.Pro419Arg) n.500C>G c.524C>G (p.Pro175Arg) | |
| 19 | g.43733407G>T | CA406206492 | SMG9 | c.1256C>A (p.Pro419His) n.500C>A c.524C>A (p.Pro175His) | |
| 19 | g.43733408G>A | CA9491203 | SMG9 | c.1255C>T (p.Pro419Ser) n.499C>T c.523C>T (p.Pro175Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.43733408G>C | CA406206495 | SMG9 | c.1255C>G (p.Pro419Ala) n.499C>G c.523C>G (p.Pro175Ala) | |
| 19 | g.43733408G= | CA2337635231 | SMG9 | c.1255C= (p.Pro419=) n.499C= c.523C= (p.Pro175=) | |
| 19 | g.43733408G>T | CA406206496 | SMG9 | c.1255C>A (p.Pro419Thr) n.499C>A c.523C>A (p.Pro175Thr) | |
| 19 | g.43733409T>A | CA507932886 | SMG9 | c.1254A>T (p.Pro418=) n.498A>T c.522A>T (p.Pro174=) | |
| 19 | g.43733409T>C | CA507932884 | SMG9 | c.1254A>G (p.Pro418=) n.498A>G c.522A>G (p.Pro174=) | gnomAD v4 |
| 19 | g.43733409T>G | CA507932883 | SMG9 | c.1254A>C (p.Pro418=) n.498A>C c.522A>C (p.Pro174=) | |
| 19 | g.43733410G>A | CA406206500 | SMG9 | c.1253C>T (p.Pro418Leu) n.497C>T c.521C>T (p.Pro174Leu) | gnomAD v4 |
| 19 | g.43733410G>C | CA406206501 | SMG9 | c.1253C>G (p.Pro418Arg) n.497C>G c.521C>G (p.Pro174Arg) | |
| 19 | g.43733410G>T | CA406206498 | SMG9 | c.1253C>A (p.Pro418Gln) n.497C>A c.521C>A (p.Pro174Gln) | |
| 19 | g.43733411G>A | CA406206502 | SMG9 | c.1252C>T (p.Pro418Ser) n.496C>T c.520C>T (p.Pro174Ser) | |
| 19 | g.43733411G>C | CA406206503 | SMG9 | c.1252C>G (p.Pro418Ala) n.496C>G c.520C>G (p.Pro174Ala) | |
| 19 | g.43733411G= | CA2337635232 | SMG9 | c.1252C= (p.Pro418=) n.496C= c.520C= (p.Pro174=) | |
| 19 | g.43733411G>T | CA406206505 | SMG9 | c.1252C>A (p.Pro418Thr) n.496C>A c.520C>A (p.Pro174Thr) | dbSNP |
| 19 | g.43733412A>C | CA507932889 | SMG9 | c.1251T>G (p.Leu417=) n.495T>G c.519T>G (p.Leu173=) | |
| 19 | g.43733412A>G | CA507932891 | SMG9 | c.1251T>C (p.Leu417=) n.495T>C c.519T>C (p.Leu173=) | |
| 19 | g.43733412A>T | CA507932890 | SMG9 | c.1251T>A (p.Leu417=) n.495T>A c.519T>A (p.Leu173=) | |
| 19 | g.43733413A>C | CA406206507 | SMG9 | c.1250T>G (p.Leu417Arg) n.494T>G c.518T>G (p.Leu173Arg) | |
| 19 | g.43733413A>G | CA406206508 | SMG9 | c.1250T>C (p.Leu417Pro) n.494T>C c.518T>C (p.Leu173Pro) | |
| 19 | g.43733413A>T | CA406206510 | SMG9 | c.1250T>A (p.Leu417His) n.494T>A c.518T>A (p.Leu173His) | |
| 19 | g.43733414G>A | CA9491204 | SMG9 | c.1249C>T (p.Leu417Phe) n.493C>T c.517C>T (p.Leu173Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43733414G>C | CA406206512 | SMG9 | c.1249C>G (p.Leu417Val) n.493C>G c.517C>G (p.Leu173Val) | |
| 19 | g.43733414G= | CA2337635233 | SMG9 | c.1249C= (p.Leu417=) n.493C= c.517C= (p.Leu173=) | |
| 19 | g.43733414G>T | CA406206514 | SMG9 | c.1249C>A (p.Leu417Ile) n.493C>A c.517C>A (p.Leu173Ile) |